Germline PHOX2B mutation in hereditary neuroblastoma - PubMed (original) (raw)

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Germline PHOX2B mutation in hereditary neuroblastoma

Yael P Mosse et al. Am J Hum Genet. 2004 Oct.

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Figure 1

Germline PHOX2B mutation in a pedigree segregating neuroblastoma and Hirschsprung disease. A, Family 1 pedigree structure. DNA samples from this family with neuroblastoma were available only for patients with a PHOX2B result shown (wt = wild type; 676delG = heterozygous mutation segregating through three generations). Patients 1-001 and 1-010 also had Hirschsprung disease, and patient 1-001 was affected with neurofibromatosis type 1. B, Genomic organization of PHOX2B and schematic representation of the PHOX2B protein. The homeobox domain and the 9– and 20–amino-acid polyalanine repeats are shown for both schemas (pink, yellow, and dark red boxes, respectively). The location of the 676delG mutation is shown (arrow). C, DNA sequence electropherograms from exon 3 of the PHOX2B gene, showing a heterozygous single-base deletion at G676 (arrow) that segregates through all three generations but does not appear in a representative unaffected family member.

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Electronic-Database Information

    1. dbSNP Home Page, http://www.ncbi.nlm.nih.gov/SNP/
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for PHOX2B, neuroblastoma, Hirschsprung disease, CCHS, and neurofibromatosis type 1)

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